Garrin is a 7-year-old boy with cystic fibrosis. The disease is caused by a genetic defect on chromosome 7. As a result, there is a defective production of protein chloride channels in epithelial cell membranes
One effect of the disease is the production of thick mucous that accumulates in Garrin's bronchial passages. As a result, he attends a physiotherapy clinic regularly for chest percussion treatments to loosen the respiratory mucous.
Garrin's disease is hereditary. What does it mean to have a genetic defect on chromosome 7 in terms of DNA, genes, and chromosomes?
In cystic fibrosis, cellular chloride channels are defective. Anatomically what type of channel is this, and what is its importance in cell function?
In the mucus-secreting cells of the lungs, chloride and sodium remain in the cell. How does this result in the production of thick, viscous mucus in the bronchial passages?
Genes are "the individual units of inheritance that transmit information from one generation to another." They are contained in DNA, which are in turn coupled with DNA-associated proteins to form chromatin. When chromatin condenses, chromosomes are formed, and it is on the seventh chromosome that the defective gene rests.
Chloride channels are integral, or transmembrane, ion channels. Ion channels function to
move ions that would otherwise be unable to cross the lipid bilayer.
create an electrical gradient for the function of excitable cells (i.e., nerve cells and muscle fibers) and for the function of secretory cells.
assist in the regulation of cellular osmotic pressure.
provide electrical gradients to speed the movement of ions across the membrane.
The retention of ions increases intracellular osmotic pressure as there are more ions in the cell in relation to the extracellular environment. As a result, water moves into the cell, leaving mucous secretions thick and viscous.
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